Klipple-Trenaunay Syndrome: A Rare Disorder With Multisystemic Clinical Attributes

Abstract

Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by abnormal development of soft tissues, lymphatic system, and blood vessels. Major features include tissue and bone overgrowth, vein malformation, and port-wine stains with or without lymphatic abnormalities. It is crucial to review this rare syndrome to avoid any diagnostic delay. In addition, it is also vital to follow disease courses with symptomatic treatment for rare complex diseases, which would help clinicians understand and implement a better treatment plan in the future. We present the case of a 19-year-old male eventually diagnosed with KTS who initially presented with swelling of his feet and skin erosion with bloody discharge. Associated findings were bluish skin discoloration, nodularity, and bleeding per rectum, leading to anemia and subsequent heart failure. Colonoscopy/sigmoidoscopy showed vascular malformation and an active bleeding site. Our patient manifested most of the clinical attributes of KTS, with an interesting clinical course of arteriovenous, soft tissue, capillary, lymphatic, and vascular malformations. However, in our case, the patient is receiving only symptomatic treatment (blood transfusion) without any limb amputation or reconstruction surgery, leading to no further deterioration of the quality of life.

Hemoporfin-Mediated Photodynamic Therapy for Port-Wine Stains on Extremities

“…With changing times, people are not only concerned about facial beauty but also about the appearance of their limbs. PWSs on the limbs can be accompanied by Klippel–Trenaunay syndrome (KTS) [ 4 , 5 ] which without prompt treatment can lead to issues such as unequal length of the limbs and soft tissue hypertrophy. PDL as well as other treatments previously or currently in use have been associated with poor outcomes [ 6 , 7 ], with an effective rate of 44.5% after at least three PDL treatments [ 7 ].…”